中华皮肤科杂志 ›› 2009, Vol. 42 ›› Issue (9): 619-621.

• 论著 • 上一篇    下一篇

一个家族性良性天疱疮致病基因的新突变位点

丁颖果,方红,蒋筱凌,张妤,刘晓艳,陈鸿超   

  1. 浙江大学医学院附属第一医院皮肤科
  • 收稿日期:2008-09-04 修回日期:2008-10-08 出版日期:2009-09-15 发布日期:2012-03-21
  • 通讯作者: 丁颖果 E-mail:dingyingguo@sina.com,dingyingguo@medmail.com.cn
  • 基金资助:
    国家自然科学基金资助项目 （30800989）；浙江省医药卫生科学研究基金资助项目（2008A051）;国家自然科学基金资助项目（编号）

A novel mutation of ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease

DING Ying-Guo,FANG Hong,JIANG Xiao-Ling,ZHANG Yu,LIU Xiao-Yan,CHEN Hong-Chao   

  1. Department of Dermatology， First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310003, China
  • Received:2008-09-04 Revised:2008-10-08 Online:2009-09-15 Published:2012-03-21
  • Contact: DING Ying-Guo E-mail:dingyingguo@sina.com,dingyingguo@medmail.com.cn

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摘要： 目的 对一个中国人家族性良性天疱疮（HHD）家系进行ATP2C1基因突变检测。方法 调查一个HHD家系3代9人，其中2例具有HHD的临床表现。收集该家系所有成员的外周血，提取基因组DNA，采用PCR扩增ATP2C1基因的27个外显子，用直接测序法进行DNA测序分析。同时设立100例无亲缘关系的正常人作为对照。 结果 在该家系的2例患者中均检测到1个尚未报道过的ATP2C1基因错义突变位点（M 661 R）。在该家系健康个体及无亲缘关系的正常对照均未发现相同突变。结论 在该HHD家系中发现ATP2C1基因一个新的特异性突变位点（M 661 R）。

关键词: 天疱疮，良性家族性, 突变, ATP2C1基因

Abstract: Objective To detect the mutation of ATP2Cl gene in a Chinese pedigree with Hailey-Hailey disease （HHD）. Methods A total of 9 family members from a Chinese three-generation pedigree were investigated. Characteristic manifestations of HHD were noted in 2 of the family members. Blood samples were collected from all family members of this pedigree and 100 unrelated healthy controls. Genomic DNA was extracted from peripheral blood cells and subjected to amplification of 27 exons of ATP2C1 gene followed by DNA sequencing. Results An unreported missence mutation （M661R） was identified in the 2 family members suffering from HHD, but not in the remaining family members or unrelated controls. Conclusion A specific novel mutation（M661R） in ATP2Cl gene is identified in a Chinese pedigree with HHD.

Key words: mutation, ATP2C1gene